ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.1871A>G (p.His624Arg)

gnomAD frequency: 0.01768  dbSNP: rs41291187
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001079423 SCV000290074 benign Alstrom syndrome 2021-12-18 criteria provided, single submitter clinical testing
GeneDx RCV000230674 SCV000524335 benign not provided 2018-05-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26104972)
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000445409 SCV000536965 benign Monogenic diabetes 2019-01-25 criteria provided, single submitter research ACMG criteria: BP4 (9 predictors, REVEL=0.012), BA1 (2.8% in EurNF in gnomAD), BS2 (31 homozygotes in ExAC, 54 homozygotes in gnomAD), BP1 (known variants are truncating)=benign
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000424178 SCV000711876 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.His623Arg in exon 8 of ALMS1: This variant is not expected to have clinical si gnificance because it has been identified in 2.88% (1921/66716) of European chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs41291187).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000424178 SCV000864108 benign not specified 2017-04-10 criteria provided, single submitter clinical testing Variant summary: The ALMS1 c.1868A>G (p.His623Arg, alternative name c.1874A>G) variant involves the alteration of a non-conserved nucleotide and 3/4 in silico tools (SNPs&GO not captured due to low reliability index) predict a benign outcome for this variant. This variant was found in 2291/120716 control chromosomes (31 homozygotes) at a frequency of 0.0189784, which is approximately 8 times the estimated maximal expected allele frequency of a pathogenic ALMS1 variant (0.0022361), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories classified this variant as "likely benign/benign." Therefore, the variant of interest has been classified as "benign."
Athena Diagnostics Inc RCV000230674 SCV001142999 benign not provided 2018-12-29 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000230674 SCV001797339 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000424178 SCV001932634 benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV001079423 SCV002080433 benign Alstrom syndrome 2019-12-02 no assertion criteria provided clinical testing

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